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Bidirectional regulation of aggression in mice by hippocampal alpha-7 nicotinic acetylcholine receptors - Lewis AS, Pittenger ST, Mineur YS, Stout D, Smith PH, Picciotto MR.
Humans with 15q13.3 microdeletion syndrome (15q13.3DS) are typically hemizygous for CHRNA7, the gene coding for the α7 nicotinic acetylcholine receptor (nAChR), and manifest a variable neuropsychiatric phenotype that frequently includes persistent aggress... (Source: SafetyLit)
Source: SafetyLit - November 13, 2017 Category: International Medicine & Public Health Tags: Alcohol and Other Drugs Source Type: news

DiGeorge syndrome
(Source: MayoClinic.com Full Feed)
Source: MayoClinic.com Full Feed - June 7, 2017 Category: Consumer Health News Source Type: news

Boy left unable to SMILE from rare condition cured by MILK
Sonny Little, 4, from Trowbridge, Wiltshire, has a rare chromosome deletion syndrome known as 2Q24.3, which caused severe seizures and left him unable to crawl, laugh, eat or smile. (Source: the Mail online | Health)
Source: the Mail online | Health - June 4, 2017 Category: Consumer Health News Source Type: news

CRKL in 22q11.2; a key gene that contributes to common birth defects
(Baylor College of Medicine) The research findings imply that patients with genitourinary birth defects due to 22q11.2 changes in gene dosage should also be evaluated for other potential birth defects seen in patients with DiGeorge syndrome that would affect the patient's future health. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - May 25, 2017 Category: International Medicine & Public Health Source Type: news

UCLA researchers find brain differences between people with genetic risk for schizophrenia, autism
A UCLA study characterizes, for the first time, brain differences between people with a specific genetic risk for schizophrenia and those at risk for autism, and the findings could help explain the biological underpinnings of these neuropsychiatric disorders.Theresearch, published May 23 in the Journal of Neuroscience, sheds light on how an excess, or absence, of genetic material on a particular chromosome affects neural development.“Notably, the opposing anatomical patterns we observed were most prominent in brain regions important for social functioning,” said Carrie Bearden, lead author of the study and a pr...
Source: UCLA Newsroom: Health Sciences - May 25, 2017 Category: Universities & Medical Training Source Type: news

Facial recognition software helps diagnose rare genetic disease
Researchers have successfully used facial recognition software to diagnose DiGeorge Syndrome, a rare, genetic disease in Africans, Asians and Latin Americans. This is the newest addition to the Atlas of Human Malformations in Diverse Populations launched last year. (Source: ScienceDaily Headlines)
Source: ScienceDaily Headlines - March 24, 2017 Category: Science Source Type: news

Facial Recognition Software Helps Diagnose Rare Genetic Disease
Researchers with the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, and their collaborators, have successfully used facial recognition software to diagnose a rare, genetic disease in Africans, Asians and Latin Americans. The disease, 22q11.2 deletion syndrome, also known as DiGeorge syndrome and velocardiofacial syndrome, affects from 1 in 3,000 to 1 in 6,000 children. (Source: eHealth News EU)
Source: eHealth News EU - March 24, 2017 Category: Information Technology Tags: Featured Research Research and Development Source Type: news

Schizophrenia-associated gene research funded by $3.1 million NIH grant
(Emory Health Sciences) A research team at Emory University is embarking on a multipronged study of 3q29 deletion syndrome, a genetic mutation associated with a 40-fold increased risk for schizophrenia and a range of other neuropsychiatric conditions including mild to moderate intellectual disability, autism and anxiety. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - March 24, 2017 Category: Global & Universal Source Type: news

Facial recognition software help diagnose rare genetic disease
(NIH/National Human Genome Research Institute) Researchers with NHGRI and their collaborators have successfully used facial recognition software to diagnose DiGeorge Syndrome, a rare, genetic disease in Africans, Asians and Latin Americans. This is the newest addition to the Atlas of Human Malformations in Diverse Populations launched last year. The study was published March 23, 2017, in the American Journal of Medical Genetics. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - March 23, 2017 Category: Global & Universal Source Type: news

Aevi Genomic initiates Phase I/II trial of AEVI-001 to treat 22q DS
US-based Aevi Genomic Medicine has initiated its Phase I/II clinical trial with the enrolment and dosing of its first patient with AEVI-001 (NFC-1) to treat 22q11.2 deletion syndrome (22q DS) in children. (Source: Drug Development Technology)
Source: Drug Development Technology - February 2, 2017 Category: Pharmaceuticals Source Type: news

22q11.2 Deletions and Duplications Confer Similar Increased Risks of Psychiatric Disorders 22q11.2 Deletions and Duplications Confer Similar Increased Risks of Psychiatric Disorders
Reuters Health Information (Source: Medscape Allergy Headlines)
Source: Medscape Allergy Headlines - January 26, 2017 Category: Allergy & Immunology Tags: Psychiatry News Source Type: news

Mitochondria in complex psychiatric disorders: Lessons from mouse models of 22q11.2 deletion syndrome: Hemizygous deletion of several mitochondrial genes in the 22q11.2 genomic region can lead to symptoms associated with neuropsychiatric disease - Devaraju P, Zakharenko SS.
Mitochondrial ATP synthesis, calcium buffering, and trafficking affect neuronal function and survival. Several genes implicated in mitochondrial functions map within the genomic region associated with 22q11.2 deletion syndrome (22q11DS), which is a key gen... (Source: SafetyLit)
Source: SafetyLit - January 7, 2017 Category: Global & Universal Tags: Ergonomics, Human Factors, Anthropometrics, Physiology Source Type: news

Albert Einstein College of Medicine Receives Major Federal Grant for Research into Intellectual and Developmental Disabilities
December 20, 2016—(BRONX, NY)—The National Institutes of Health (NIH) has awardedAlbert Einstein College of Medicine a five-year, $6 million grant to fund theRose F. Kennedy Intellectual and Developmental Disabilities Research Center (IDDRC). The grant will also support a new research program focused on 22q11.2 Deletion Syndrome (22q11.2DS), an incurable genetic disorder associated with delayed intellectual development and psychiatric conditions, and some forms of congenital heart disease as well as other medical problems. (Source: Einstein News)
Source: Einstein News - December 20, 2016 Category: Universities & Medical Training Source Type: news

What Is Chromosome 22q11.2 Deletion Syndrome? What Is Chromosome 22q11.2 Deletion Syndrome?
Dr Donna McDonald-McGinn discusses how research into this microdeletion syndrome is shining a light on related conditions like autism, schizophrenia, and congenital heart disease. CHOP Expert Commentary (Source: Medscape Cardiology Headlines)
Source: Medscape Cardiology Headlines - July 18, 2016 Category: Cardiology Tags: Pediatrics Commentary Source Type: news

Genetics Home Reference: 19p13.13 deletion syndrome
https://ghr.nlm.nih.gov/condition/19p1313-deletion-syndrome (Source: NLM General Announcements)
Source: NLM General Announcements - June 28, 2016 Category: Databases & Libraries Source Type: news

Genetics Home Reference: 3p deletion syndrome
https://ghr.nlm.nih.gov/condition/3p-deletion-syndrome (Source: NLM General Announcements)
Source: NLM General Announcements - June 28, 2016 Category: Databases & Libraries Source Type: news

Medical News Today: DiGeorge Syndrome: Causes, Symptoms and Treatment
Learn about DiGeorge syndrome, also known as 22q11.2 deletion syndrome, a chromosomal disorder that causes several body systems to develop poorly. (Source: Health News from Medical News Today)
Source: Health News from Medical News Today - April 6, 2016 Category: Consumer Health News Tags: Genetics Source Type: news

Genetic syndrome may underlie some Parkinson’s cases
Rare deletions at chromosome 22q11.2 are present at an increased rate in patients with Parkinson’s disease, researchers report in The Lancet Neurology. (Source: MedWire News)
Source: MedWire News - March 25, 2016 Category: Consumer Health News Tags: Parkinson ' s disease Source Type: news

New technique could expand number of diseases detected by noninvasive prenatal testing
(University of California - San Diego) Researchers at the University of California, San Diego School of Medicine developed a method to expand the types of chromosomal abnormalities that noninvasive prenatal testing can detect. The study, published Nov. 9 by Proceedings of the National Academy of Sciences, uses a semiconductor sequencing platform to identify small chromosomal deletions or duplications, such as occur in Cri du Chat Syndrome and DiGeorge Syndrome, with a simple blood test from the expectant mother. (Source: EurekAlert! - Cancer)
Source: EurekAlert! - Cancer - November 9, 2015 Category: Cancer & Oncology Source Type: news

Birth factors may predict schizophrenia in genetic subtype of schizophrenia
(Centre for Addiction and Mental Health) Low birth weight and preterm birth appear to increase the risk of schizophrenia among individuals with a genetic condition called the 22q11.2 deletion syndrome, a new study from the Centre for Addiction and Mental Health shows. (Source: EurekAlert! - Biology)
Source: EurekAlert! - Biology - August 13, 2015 Category: Biology Source Type: news

Scientists Closer to Predicting DiGeorge Syndrome PrognosisScientists Closer to Predicting DiGeorge Syndrome Prognosis
Scientists may be one step closer to discovering a biomarker that could one day determine whether children with DiGeorge syndrome, a genetic disorder, will develop psychosis or autism. Medscape Medical News (Source: Medscape Medical News Headlines)
Source: Medscape Medical News Headlines - August 6, 2015 Category: Consumer Health News Tags: Psychiatry News Source Type: news

Predicting if Children with DiGeorge Syndrome will Develop Autism or Psychosis
Doctors and researchers have long known that children who are missing about 60 genes on a certain chromosome are at a significantly elevated risk for developing either a disorder on the autism spectrum or psychosis - that is, any mental disorder characterized by delusions and hallucinations, including schizophrenia. But there has been no way to predict which child with the abnormality might be at risk for which disorder. (Source: Disabled World)
Source: Disabled World - July 31, 2015 Category: Disability Tags: Medical Research Source Type: news

Study may show a way to predict whether children with a genetic disorder will develop autism or psychosis
Doctors and researchers have long known that children who are missing about 60 genes on a certain chromosome are at a significantly elevated risk for developing either a disorder on the autism spectrum or psychosis — that is, any mental disorder characterized by delusions and hallucinations, including schizophrenia. But there has been no way to predict which child with the abnormality might be at risk for which disorder. New findings by researchers at UCLA and the University of Pittsburgh are the first to suggest a potential way to make that determination. In a study published in PLOS One, the researchers report havi...
Source: UCLA Newsroom: Health Sciences - July 24, 2015 Category: Universities & Medical Training Source Type: news

Monica McDivitt describes moment her disabled daughter took to the waves
Monica McDivitt's daughter Samantha, 14, from Katy, Texas, was born with chromosome 18q deletion syndrome, which left her with multiple disabilities. But it doesn't keep her from surfing. (Source: the Mail online | Health)
Source: the Mail online | Health - May 1, 2015 Category: Consumer Health News Source Type: news

UCLA receives $1 million in new funds for role in worldwide ENIGMA brain study
UCLA will receive $1 million in new funding from the National Institutes of Health as part of a global initiative to pool data about the human brain. The Enhancing Neuro Imaging Genetics through Meta-Analysis (ENIGMA) consortium unites brain researchers in 33 countries to discover factors that help or harm the brain. Started in 2009 by researchers in the U.S., Europe and Australia, the alliance studies brain scans and DNA from 30,000 people at more than 185 sites around the world. Data produced by the sites are analyzed by computing facilities working around the clock to detect the effects of certain treatments identify ri...
Source: UCLA Newsroom: Health Sciences - October 17, 2014 Category: Universities & Medical Training Source Type: news

Genetics Home Reference: 18q deletion syndrome
http://ghr.nlm.nih.gov/condition/18q-deletion-syndrome (Source: NLM General Announcements)
Source: NLM General Announcements - June 25, 2014 Category: Databases & Libraries Source Type: news

1p36 Deletion Syndrome
Title: 1p36 Deletion SyndromeCategory: Diseases and ConditionsCreated: 6/21/2011 1:35:00 PMLast Editorial Review: 4/24/2014 12:00:00 AM (Source: MedicineNet Kids Health General)
Source: MedicineNet Kids Health General - April 24, 2014 Category: Pediatrics Source Type: news

Potential solution for feeding, swallowing difficulties in children with digeorge syndrome, autism
Research reveals new information on the pathogenesis of feeding and swallowing difficulties often found in children with neurodevelopmental disorders, including autism and intellectual disability. (Source: ScienceDaily Headlines)
Source: ScienceDaily Headlines - February 19, 2014 Category: Science Source Type: news

Scientists discover new mechanism that preserves genomic integrity and is abnormal in the rare DiGeorge syndrome
An international team including GENYO centre researchers has described a molecular mechanism that defends human genome integrity against "bombarding" by mobile DNA sequences... (Source: Health News from Medical News Today)
Source: Health News from Medical News Today - October 12, 2013 Category: Consumer Health News Tags: Genetics Source Type: news

MIND Institute to participate in international study of schizophrenia in 22q11.2 deletion syndrome
Researchers at the UC Davis MIND Institute will participate in an international consortium spanning four continents that will study the genetics of schizophrenia and other psychiatric disorders in chromosome 22q11.2 deletion syndrome through a four-year, $12 million grant from the National Institute of Mental Health to the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome. The consortium encompasses 22 institutions in North America, Europe, Australia and South America... (Source: Health News from Medical News Today)
Source: Health News from Medical News Today - October 9, 2013 Category: Consumer Health News Tags: Schizophrenia Source Type: news

New mechanism preserving genomic integrity and is abnormal in the rare DiGeorge syndrome
(University of Granada) An international team including GENYO center researchers has described a molecular mechanism that defends human genome integrity against "bombarding" by mobile DNA sequences. Alterations in the mechanism could be responsible for symptoms causing this syndrome. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - October 9, 2013 Category: Global & Universal Source Type: news

UCLA joins international effort to study genetics of schizophrenia in deletion syndrome patients
UCLA has joined an international consortium to investigate the high rates of schizophrenia and other neuropsychiatric disorders in those who are affected with Chromosome 22q11.2 deletion syndrome, a disorder caused by the deletion of a small piece of chromosome number 22.   A multisystem disorder, Chromosome 22q11.2 deletion syndrome can also include developmental delays and developmental and behavioral differences across the life span.   The International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome is a large-scale effort involving 22 institutions in North America, including UCLA, as well as se...
Source: UCLA Newsroom: Health Sciences - October 8, 2013 Category: Universities & Medical Training Source Type: news

UCLA joins international effort to study genetics of schizophrenia in deletion syndrome patients
(University of California - Los Angeles) UCLA has joined an international consortium to investigate the high rates of schizophrenia and other neuropsychiatric disorders in those who are affected with Chromosome 22q11.2 deletion syndrome, a disorder caused by the deletion of a small piece of chromosome number 22 at a location designated q11.2. (Source: EurekAlert! - Social and Behavioral Science)
Source: EurekAlert! - Social and Behavioral Science - October 8, 2013 Category: Global & Universal Source Type: news

CHOP genetics expert co-leads NIH grant on psychiatric illness in patients with deletion syndrome
(Children's Hospital of Philadelphia) Genetics experts from The Children's Hospital of Philadelphia are among the top leaders of a major international collaboration researching why patients with chromosome 22q11.2 deletion syndrome have an elevated risk of schizophrenia and other psychiatric illnesses. Discovering genes implicated in the deletion syndrome, a multisystem disorder, may offer important clues to the biological causes of mental illness in the general population. (Source: EurekAlert! - Social and Behavioral Science)
Source: EurekAlert! - Social and Behavioral Science - October 3, 2013 Category: Global & Universal Source Type: news

Penn co-leads $12 M NIH grant to study genetics of mental illnesses in deletion syndrome patients
(University of Pennsylvania School of Medicine) A major international consortium co-led by Penn Medicine has received a $12 million National Institute of Mental Health grant for a large-scale genetics study investigating why patients with chromosome 22q11.2 deletion syndrome have an increased risk of schizophrenia and other psychiatric disorders. (Source: EurekAlert! - Social and Behavioral Science)
Source: EurekAlert! - Social and Behavioral Science - October 3, 2013 Category: Global & Universal Source Type: news

Kids With Genetic Disorder Often Misdiagnosed With AutismKids With Genetic Disorder Often Misdiagnosed With Autism
Autism is not as prevalent in children with the genetic disorder chromosome 22q11.2 deletion syndrome as previously reported. Medscape Medical News (Source: Medscape Today Headlines)
Source: Medscape Today Headlines - September 25, 2013 Category: Consumer Health News Tags: Psychiatry News Source Type: news

Autism Being Misdiagnosed in Children with 22q Syndrome
(Ivanhoe Newswire) – Children diagnosed with 22q11.2 deletion syndrome, often called 22q, are being misdiagnosed as autistic. (Source: Medical Headlines From Ivanhoe.com)
Source: Medical Headlines From Ivanhoe.com - September 23, 2013 Category: Consumer Health News Source Type: news

Genetic disorder 22q could be misdiagnosed as autism
Children who suffer from a genetic disorder called 22q11.2 deletion syndrome may be at risk of being misdiagnosed with autism, according to a study published in the Journal of Autism and Developmental Disorders. The researchers, from the MIND Institute at the University of California, Davis, say that as children with 22q11.2 deletion syndrome (22q) are frequently believed to have autism, they could be misdiagnosed because the social impairments linked to their developmental delay could "mimic" the features of autism... (Source: Health News from Medical News Today)
Source: Health News from Medical News Today - September 20, 2013 Category: Consumer Health News Tags: Autism Source Type: news

Genetic Condition May Be Mistaken for Autism in Some Kids: Report
Rigorous evaluations needed to rule out deletion syndrome in children, experts say (Source: WebMD Health)
Source: WebMD Health - September 18, 2013 Category: Consumer Health News Source Type: news

Genetic Condition May Be Mistaken for Autism in Some Kids
Rigorous evaluations needed to rule out deletion syndrome in children, experts say Source: HealthDay Related MedlinePlus Pages: Autism, Children's Health, Genetic Disorders (Source: MedlinePlus Health News)
Source: MedlinePlus Health News - September 18, 2013 Category: Consumer Health News Source Type: news

Study finds that a subset of children often considered to have autism may be misdiagnosed
(University of California - Davis Health System) Children with a genetic disorder called 22q11.2 deletion syndrome, who frequently are believed to also have autism, often may be misidentified because the social impairments associated with their developmental delay may mimic the features of autism, a study by researchers with the UC Davis MIND Institute suggests. (Source: EurekAlert! - Social and Behavioral Science)
Source: EurekAlert! - Social and Behavioral Science - September 18, 2013 Category: Global & Universal Source Type: news

Concept Clearance » Concept Clearance - Toward Early Prediction of Psychosis: Collaborative Research on Developmental Risk in 22q11.2 Deletion Syndrome
This initiative aims to support a collaborative, multi-site, prospective longitudinal study to track neurodevelopmental trajectories and to collect biomarkers in children and adolescents at high risk for psychosis by virtue of having 22q11.2 deletion syndrome (DS). (Source: National Institute of Mental Health)
Source: National Institute of Mental Health - July 11, 2013 Category: Psychiatry Authors: National Institute of Mental Health Source Type: news

Velo-Cardio-Facial Syndrome, DiGeorge Syndrome, or Shprintzen Syndrome?
Velo-cardio-facial syndrome (VCFS) is a form of genetic condition that is related to DiGeorge syndrome and involves a similar chromosome abnormality as DiGeorge syndrome. VCFS has varying conditions present in each person with the syndrome. Conditions that are common to the syndrome include effects on a person’s facial appearance, certain heart defects, as well as a lock of or under-developed parathyroid and thymus glands. DiGeorge syndrome presents the same clinical features as VCFS, although a person must have immune system deficiencies associated with a lack of a thymus gland to be considered to have true DiGeorge...
Source: Disabled World - February 16, 2013 Category: Disability Tags: Disability Information Source Type: news